HsaINT0012970 @ hg38
Intron Retention
Gene
ENSG00000099889 | ARVCF
Description
armadillo repeat gene deleted in velocardiofacial syndrome [Source:HGNC Symbol;Acc:HGNC:728]
Coordinates
chr22:19969896-19971335:-
Coord C1 exon
chr22:19971216-19971335
Coord A exon
chr22:19970744-19971215
Coord C2 exon
chr22:19969896-19970743
Length
472 bp
Sequences
Splice sites
5' ss Seq
CTGGTACGT
5' ss Score
9.57
3' ss Seq
CATCCCCTTTCCCTCTGCAGGGC
3' ss Score
12.98
Exon sequences
Seq C1 exon
CTCGACCCCAGCAGGAAGGCCCCTCCCCCCGGGCCCAGCAGGCCCGCGGTCAGGCTGGTGGACGCCGTAGGGGACGCTAAGCCTCAGCCCGTTGATTCCTGGGTCTAGCTTGCATGCCTG
Seq A exon
GTACGTTCTCTCATCTGGTTGTTCGTCCACCTGTTCCTGCCCTCTGGGCCAGGGCTTCTTGTTAGTCTCCGCTGCCTGCACGCTCTGCTCTTCCCGCACGTTCCCCGCAGGACTTTGGCCTCCAGTCCAGCAGCCCAGTGGCCCATTCCCGGAAAGACCAGGCAGAGGTCAGAGAGGGAGGGTGCTCCCTGGGCCCACAGCCCTGTCCCAGGCACTGTGGGATCAGGGGCCTGAGGAAATGGGACCAGAGTAGGGATGGGCACCATACCCTCCAACGCCCTTCGGGGACCAGCAAGTCAGGATCAGCCCTGGTGCCAAGACCCTTGGGGTCAGCCCACACCACCCAGGGCAGATGCTTCTATCCACATCTCCATCCATGTAGCCTGTGGAGTTGGCTGCCCTGCCCTGAGGTTACACGTGGTCCTGTGCCACTCAGTGGCTGCAGCGTCCACCATCCCCTTTCCCTCTGCAG
Seq C2 exon
GGCCCAGGCCCAGCCTCTTGTTCTTAGGGCTTGGATCGTGGAAGAAGGGCCACCCTGAGCAGATCGTGCCGTGGAGCTTGGAGCCCCCTGGCGGCAGGGGTTGGCAGCGCCTCGCCCCAGCCAAGCCTGACTTTGGGGACACCCTCCTGCCCCCCCACCCCACTCCCCCCATCCTACCTAACTCCCTAGGCCTGAGTTAGCTGTTTACTGACATGGTGCTGTGTGTGAGCGAGTGACAGAAGGCCCGAGGAGGCCGACTGGGCTGCTGGGGCAGGGCCCAGGGAGGTGGCAGGGAAGGGTGCCTGGCTGGGCTTTGGGGCTGGTGGGATAGGAGGGTGCCCCTGGGAACACAGTGCCCCAGTGGTGCGGGCCAGGTCTGGCGCCAGGGGCAGGCAGCTAGGCAGGGAGGGGGCTGGGAAAGAACTTGGACTTCTAAAGGCGGAGGGTCTCCCTGGGCACCCTGCAGGCAGGCAGACCACGGTGTGGGGGGTGCCCCACAAGGCCCAGCCCTGGGCAAGGAAGCTTTGGAAGCAGCAAGGTGGGGGTCAGGCTACAGGTGCCCCACCTCCCCAGAGCCCTGCAGTCACGTGAGGCCCCTGTGCAGTAGAGAGCCTTTCTCCAGCCCATGCTGGCTGGGGCCGGGGCTGCCGCATCTGCCTGGAGCCTGGGCAGCACCTCCGGGACTGACCTTCGGCAGTGGCTGGGGGACTGCTTTCAGTGCCTGCTGTTCGTGACTCAGAAACAGAAGAAAAACACTGAGAAAAAGCATTAAAAATAAGCCAAAATAAGACTATTGGTAAACACCTAAATTTTTGTAAGAAAATTTAAAAATTAAAGCAGCAAAGGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000099889:ENST00000263207:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact
3' UTR
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NA
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTCCTGGGTCTAGCTTGCATG
R:
CCTATCCCACCAGCCCCAAAG
Band lengths:
357-829
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development